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. 2022 Nov 24;27:104. doi: 10.1186/s11658-022-00405-w

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Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — Scheme of the NT5C3A gene transcript variant 4 (NM_001002010.2)—erythrocyte-specific nucleotidase isoforms (cN-IIIA-R). Additional exon R appears only in the reticulocyte mRNA splice variant, which was detected downstream of exon 2 [28]. The figure shows the location of the in-frame deletion (p.F149del) detected in patients with HA in the studied family. Localization of the primers used for cDNA amplification is indicated by arrows